Variant: rs1554943158 

    present in Gene: DEAF1
    present in Chromosome: 11
    Position on Chromosome: 681045
    Alleles of this Variant: CTT/-

rs1554943158 in DEAF1 gene and Autistic behavior PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Central hypotonia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Cerebellar Ataxia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Global developmental delay PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1554943158 in DEAF1 gene and Seizures PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.